intellectual disability, autosomal recessive 42

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Disease Overview

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.


Synonyms

  • MRT42
  • PGAP1 autosomal recessive non-syndromic intellectual disability
  • autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1
  • glycosylphosphatidylinositol biosynthesis defect 9
  • intellectual disability, autosomal recessive 42
  • intellectual disability, autosomal recessive type 42
  • mental retardation, autosomal recessive 42
  • mental retardation, autosomal recessive type 42
  • neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalitiesMRT42
  • PGAP1 autosomal recessive non-syndromic intellectual disability
  • autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1
  • glycosylphosphatidylinositol biosynthesis defect 9
  • intellectual disability, autosomal recessive 42
  • intellectual disability, autosomal recessive type 42
  • mental retardation, autosomal recessive 42
  • mental retardation, autosomal recessive type 42
  • neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities